Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64837
Gene name Gene Name - the full gene name approved by the HGNC.
Kinesin light chain 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLC2
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a light chain of kinesin, a molecular motor responsible for moving vesicles and organelles along microtubules. Defects in this gene are a cause of spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. [pro
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1554996989 GCTAGGGCTGTGGATGAGCACTGCAGGAAGGCACTTCGGGGTCTATCAGAGGAAATTTTTGCTAACCTTCCGAGTTGTCTCAGAGCCAAACGTAGTAAGCTACCTGTCACCGGATGTGCTTGAGCTAAGGGCGCTGAACCACCTCTGTCAGAGACGGTGCATCCCCCACCGGATGTGACCCCGGGATGCGGAGCCTGGGGTCAGATCTGCGAGCCAG>- Pathogenic Upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT049334 hsa-miR-92a-3p CLASH 23622248
MIRT047944 hsa-miR-30c-5p CLASH 23622248
MIRT043375 hsa-miR-331-3p CLASH 23622248
MIRT042175 hsa-miR-484 CLASH 23622248
MIRT727349 hsa-miR-15a-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 14985359, 15161933, 15778465, 25855459, 28514442, 33961781, 35271311, 36217029, 36931259
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611729 20716 ENSG00000174996
Protein
UniProt ID Q9H0B6
Protein name Kinesin light chain 2 (KLC 2)
Protein function Kinesin is a microtubule-associated force-producing protein that plays a role in organelle transport. The light chain functions in coupling of cargo to the heavy chain or in the modulation of its ATPase activity (Probable). Through binding with
PDB 3CEQ , 3EDT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13424 TPR_12 196 272 Repeat
PF13424 TPR_12 261 314 Repeat
PF13424 TPR_12 280 356 Repeat
PF13424 TPR_12 322 397 Repeat
Sequence
MAMMVFPREEKLSQDEIVLGTKAVIQGLETLRGEHRALLAPLVAPEAGEAEPGSQERCIL
LRRSLEAIELGLGEAQVILALSSHLGAVESEKQKLRAQVRRLVQENQWLREELAGTQQKL
QRSEQAVAQLEEEKQHLLFMSQIRKLDEDASPNEEKGDVPKDTLDDLFPNEDEQSPAPSP
GGGDVSGQHGGYEIPARLRTLHNLVIQYASQGRYEVAVPLCKQALEDLEKTSGHDHPDVA
TMLNILALVYRDQNKYKEAA
HLLNDALAIREKTLGKDHPAVAATLNNLAVLYGKRGKYKE
AEPLCKRALEIREK
VLGKFHPDVAKQLSNLALLCQNQGKAEEVEYYYRRALEIYATRLGP
DDPNVAKTKNNLASCYLKQGKYQDAETLYKEILTRAH
EKEFGSVNGDNKPIWMHAEEREE
SKDKRRDSAPYGEYGSWYKACKVDSPTVNTTLRSLGALYRRQGKLEAAHTLEDCASRNRK
QGLDPASQTKVVELLKDGSGRRGDRRSSRDMAGGAGPRSESDLEDVGPTAEWNGDGSGSL
RRSGSFGKLRDALRRSSEMLVKKLQGGTPQEPPNPRMKRASSLNFLNKSVEEPTQPGGTG
LSDSRTLSSSSMDLSRRSSLVG
Sequence length 622
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Motor proteins
Alzheimer disease
Parkinson disease
Amyotrophic lateral sclerosis
Huntington disease
Prion disease
Pathways of neurodegeneration - multiple diseases
Salmonella infection
  MHC class II antigen presentation
RHO GTPases activate KTN1
COPI-dependent Golgi-to-ER retrograde traffic
Kinesins
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Spastic Paraplegia spastic paraplegia, optic atropy, and neuropathy N/A N/A GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 35563834
Carcinoma Non Small Cell Lung Associate 25668010
Lung Neoplasms Stimulate 37055376